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The familial aggregation of pediatric obstructive sleep apnea syndrome
Alexander Ovchinsky1, Madu Rao, Irwin Lotwin
1Division of Pediatric Otolaryngology, Department of Otolaryngology, SUNY Health Science Center at Brooklyn/Long Island College Hospital, 134 Atlantic Ave, Brooklyn, NY 11201, USA. ovchinsa@hotmail.com
Insights
This study suggests a genetic link in pediatric obstructive sleep apnea syndrome (OSAS). Familial aggregation of OSAS symptoms indicates a hereditary component, warranting further genetic investigation.
Area of Science:
- Genetics
- Pediatrics
- Sleep Medicine
Background:
- Pediatric obstructive sleep apnea syndrome (OSAS) affects a significant number of children.
- The underlying mechanisms contributing to OSAS development require further elucidation.
- Genetic factors are increasingly recognized as potential contributors to complex diseases.
Purpose of the Study:
- To investigate the role of genetic mechanisms in the etiology of pediatric obstructive sleep apnea syndrome (OSAS).
- To assess the familial aggregation of OSAS and related symptoms in first-degree relatives of affected children.
Main Methods:
- A genetic-epidemiologic survey was conducted with families of children diagnosed with OSAS.
- Laboratory-confirmed OSAS cases were identified through polysomnography records.
- Telephone interviews with caretakers assessed sleep-disordered breathing symptoms in first-degree relatives.
Main Results:
- Of 115 index patients, 50 (43.5%) had at least one relative with OSAS symptoms.
- Habitual snoring was reported in 43.6% of relatives, and OSAS symptoms in 20.4%.
- Symptoms suggestive of OSAS were present in 26.6% of adult and 12.2% of pediatric relatives.
Conclusions:
- The observed familial clustering of OSAS supports a hereditary basis for the disorder.
- These findings highlight the importance of considering genetic predisposition in pediatric OSAS.
- Further research into specific genetic mechanisms underlying pediatric OSAS is warranted.
Objective:
To determine the role of genetic mechanisms in the development of pediatric obstructive sleep apnea syndrome (OSAS).
Design:
Genetic-epidemiologic survey of families of index children with laboratory-confirmed OSAS.
Setting:
Tertiary care academic medical center.
Participants:
Six-hundred nap polysomnograms performed in our institution's pediatric sleep laboratory over a 6-year period (1994-2000) were reviewed, and the 497 children who tested positive for OSAS were selected. A caretaker of 200 of these index patients was contacted, and 115 were enrolled in the study.
Intervention And Main Outcome Measure:
Questionnaire-type telephone interviews were conducted with the current caretakers of the index patients to assess the distribution of sleep-disordered breathing in the first-degree relatives.
Results:
Data were collected for 445 first-degree relatives (256 adults and 189 children) of the 115 index patients. Habitual snoring was found in 194 (43.6%) of the family members, while symptoms highly suggestive of OSAS (nighttime "gasping for air" or "cessation of breathing") were found in 91(20.4%). Sixty-eight (26.6%) of the adult first-degree relatives and 23 (12.2%) of the pediatric first-degree relatives had symptoms highly suggestive of OSAS. Of the 115 index children, 50 (43.5%) had at least 1 relative with symptoms highly suggestive of OSAS; 6 (1.3%) of the first-degree relatives had sleep study results positive for OSAS, 4 (0.9%) were using nasal continuous positive airway pressure, and 21 (4.7%) had prior surgery for the treatment of OSAS.
Conclusion:
Considering the established prevalence of OSAS in the general population (2%-4%), the results of this study support a familial basis for this disorder.